Work

Pulmonary Vein Stenosis Associated with Germline PIK3CA Mutation

Year: 2022

Type: article

Abstract: Pulmonary vein stenosis is a rare and frequently lethal childhood disease. There are few known genetic associations, and the pathophysiology is not well known. Current treatments include surgery, interventional cardiac catheterization, and more recently, medications targeting cell proliferation, which are not uniformly effective. We present a patient with PVS and a PIK3CA mutation, who demonstrated a good response to the targeted inhibitor, alpelisib.

Source: Children

DOI: 10.3390/children9050671

Authors: Delphine Yung, Kaitlyn Freeman, Ghayda Mirzaa

Institutions: University of Washington, Seattle Children's Research Institute, Brotman Baty Institute

Language: English

Topic: Pulmonary Hypertension Research and Treatments

Subfield: Pulmonary and Respiratory Medicine

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: gold

Estimated APC paid: $1,885